Pediatric presentation of enhanced S-cone syndrome associated with two heterozygous NR2E3 mutations

Viktorija Gurskyte,Irina Kozlovskaja, Anzelika Makouskaja, Ausrine Misevice

Journal of American Association for Pediatric Ophthalmology and Strabismus（2023）

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摘要

We report the case of an otherwise healthy 10-year-old girl referred to our institution for gradually decreasing vision and nyctalopia. Based on clinical examination, she was diagnosed with inherited retinal dystrophy, presumably due to enhanced S-cone syndrome (ESCS). Subsequent genetic testing confirmed a rare combination of NR2E3 heterozygous mutations: c.119-2A>C and c.932G>A p.(Arg311Gln).

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关键词

syndrome,mutations,pediatric presentation,s-cone

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